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Liver disease
Alpha-1 antitrypsin definciency
The alpha-1 antitrypsin deficiency gene is as common as cystic fibrosis, affecting about 1 in 2,500 people. It is the most common genetic cause of liver disease in children and the most common genetic condition for which liver transplantation is carried out in children.
An Alpha-1 antitrypsin deficiency is usually diagnosed while testing a baby for jaundice shortly after birth or at family screening.
Most babies with Alpha-1 antitrypsin deficiency lose their jaundice but a small number may require liver transplantation in the first five years of life. The outcome of children diagnosed after family screening is usually good, but as adults they may develop liver disease or lung disease. Smoking and alcohol are best avoided as they can make lung and liver damage worse. Antenatal screening is available.
Inheritance patterns
Autosomal recessive disorder.
Prenatal diagnosis
Chorionic villus sampling between eleven to fourteen weeks of gestation for genotype analysis is practised in some units.
Genetic liver diseases
| Wilson's disease 
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